Intellectual disability and retinitis pigmentosa due to a homozygous null <i>SCAPER</i> variant: a clinical and genetic insight with review of the literature

This report describes the first case of a homozygous c.2605 A>T variant in SCAPER, highlighting its role in ciliary and cell cycle dynamics. These findings contribute to a better understanding of SCAPER-related phenotypes and emphasize the importance of genetic testing in similar cases.

Authors

Zehra Manav Yiğit (ORCID: https://orcid.org/0000-0002-9505-0371)
Erol Erkan (ORCID: https://orcid.org/0000-0001-8395-1765)
Gözde Şahin Vural (ORCID: https://orcid.org/0000-0002-6989-4378)
Gökay Bozkurt (ORCID: https://orcid.org/0000-0002-6963-3186)
Osman Semih Dikbaş

Institutions

Balıkesir University (TR)
Adnan Menderes University (TR)

Publication Details

Journal: Ophthalmic Genetics
Published: 2025-03-30
DOI: https://doi.org/10.1080/13816810.2025.2485222
Citations: 1
Primary Topic: Retinal Development and Disorders
Type: article
Field-Weighted Citation Impact: 0.81

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article

Intellectual disability and retinitis pigmentosa due to a homozygous null SCAPER variant: a clinical and genetic insight with review of the literature

Zehra Manav Yiğit, Erol Erkan, Gözde Şahin Vural, Gökay Bozkurt et al.

Mar 30, 2025

1 citations

Ophthalmic Genetics

Retinal Development and Disorders

0.81

article

Intellectual disability and retinitis pigmentosa due to a homozygous null SCAPER variant: a clinical and genetic insight with review of the literature

Zehra Manav Yiğit, Erol Erkan, Gözde Şahin Vural, Gökay Bozkurt, Osman Semih Dikbaş

March 30, 2025article en

1 citations

Abstract

This report describes the first case of a homozygous c.2605 A>T variant in SCAPER, highlighting its role in ciliary and cell cycle dynamics. These findings contribute to a better understanding of SCAPER-related phenotypes and emphasize the importance of genetic testing in similar cases.

Ophthalmic GeneticsVol. 46(5)

Balıkesir University (TR), Adnan Menderes University (TR)

Quality Education

Openalex Percentile: Top 30%

Retinal Development and Disorders

0.81

DOI Source OpenAlex

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